Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV001024793 | SCV001186873 | uncertain significance | Hereditary cancer-predisposing syndrome | 2019-09-19 | criteria provided, single submitter | clinical testing | The p.K2001E variant (also known as c.6001A>G), located in coding exon 15 of the APC gene, results from an A to G substitution at nucleotide position 6001. The lysine at codon 2001 is replaced by glutamic acid, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV001264459 | SCV001442625 | uncertain significance | not specified | 2020-10-09 | criteria provided, single submitter | clinical testing | Variant summary: APC c.6001A>G (p.Lys2001Glu) results in a conservative amino acid change in the encoded protein sequence. Five of five in-silico tools predict a benign effect of the variant on protein function. The variant was absent in 250002 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.6001A>G in individuals affected with Familial Adenomatous Polyposis and no experimental evidence demonstrating its impact on protein function have been reported. One ClinVar submitter (evaluation after 2014) cite the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance. |